GENE NAME | SIGMAR1 |
CHROMOSOME | 9 |
ENSEMBL ID | ENSG00000147955 |
ENTREZ ID | 10280 |
UNIPROT ACCESSION NUMBER | Q99720 |
GO MOLECULAR FUNCTION | signaling receptor activity; G protein-coupled opioid receptor activity; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-5663205; R-HSA-9679506; hsa05022; R-HSA-1643685; hsa05014; R-HSA-9679191 |
2 combinations linked to SIGMAR1 | OLI438; OLI824 |
2 variants linked to SIGMAR1 | SIGMAR1:c.622G>A, p.Arg208Trp; SIGMAR1:c.125T>G, p.Ile42Arg |
1 disease linked to SIGMAR1 | Amyotrophic lateral sclerosis |